Canonical Allele Identifier: CA2503322

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2963858
• ClinVar RCV Id: RCV003825496
• dbSNP Id: rs569018785
• ExAC: 3:93615422 G / A
• gnomAD v2: 3-93615422-G-A
• gnomAD v3: 3-93896578-G-A
• gnomAD v4: 3-93896578-G-A
• MyVariant Identifiers: chr3:g.93615422G>A (hg19) ; chr3:g.93896578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896578G>A , CM000665.2:g.93896578G>A	GRCh38
NC_000003.11:g.93615422G>A , CM000665.1:g.93615422G>A	GRCh37
NC_000003.10:g.95098112G>A	NCBI36
NG_009813.1:g.82513C>T , LRG_572:g.82513C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.963C>T	ENSP00000330021.7:p.Ser321=
ENST00000394236.9:c.963C>T MANE Select	ENSP00000377783.3:p.Ser321=
ENST00000407433.6:c.918C>T	ENSP00000385794.2:p.Ser306=
ENST00000647936.1:c.963C>T	ENSP00000496822.1:p.Ser321=
ENST00000648381.1:n.1131C>T
ENST00000648853.1:c.921C>T	ENSP00000497262.1:p.Ser307=
ENST00000649103.1:c.1062C>T	ENSP00000497962.1:n.1062C>T
ENST00000650591.1:c.1059C>T	ENSP00000497376.1:p.Ser353=
ENST00000394236.7:c.963C>T	ENSP00000377783.3:p.Ser321=
ENST00000407433.5:c.570C>T	ENSP00000385794.1:p.Ser190=
NM_000313.3:c.963C>T , LRG_572t1:c.963C>T	NP_000304.2:p.Ser321=
NM_001314077.1:c.1059C>T , LRG_572t2:c.1059C>T	NP_001301006.1:p.Ser353=
NM_000313.4:c.963C>T MANE Select	NP_000304.2:p.Ser321=
NM_001314077.2:c.1059C>T	NP_001301006.1:p.Ser353=